Canonical Allele Identifier: CA490027134
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1171561
ClinVar RCV Id: RCV001524758 RCV004008789
dbSNP Id: rs1363175789
gnomAD v2: 15-48760169-A-T
MyVariant Identifiers: chr15:g.48760169A>T (hg19) chr15:g.48467972A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48467972A>T , CM000677.2:g.48467972A>T GRCh38
NC_000015.9:g.48760169A>T , CM000677.1:g.48760169A>T GRCh37
NC_000015.8:g.46547461A>T NCBI36
NG_008805.2:g.182817T>A , LRG_778:g.182817T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000559133.6:c.4713T>A ENSP00000453958.2:p.Gly1571=
ENST00000674301.2:c.4713T>A ENSP00000501333.2:p.Gly1571=
ENST00000684448.1:n.3387T>A
ENST00000316623.10:c.4713T>A MANE Select ENSP00000325527.5:p.Gly1571=
ENST00000316623.9:c.4713T>A ENSP00000325527.5:p.Gly1571=
ENST00000537463.6:c.*476T>A ENSP00000440294.2:n.*476T>A
ENST00000559133.5:c.20T>A
NM_000138.4:c.4713T>A , LRG_778t1:c.4713T>A NP_000129.3:p.Gly1571=
NM_000138.5:c.4713T>A MANE Select NP_000129.3:p.Gly1571=
Search 100 bp 5'
Search 100 bp 3'